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Café au lait spot characteristic of NF1 Diagnostic criteria of neurofibromatosis type I, requiring at least 2 of the mentioned items. [6]The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and progressive development, occurrence percentage of NF-1 population, method of earliest diagnosis, and treatments and related medical ...
Neurofibromatosis type I is the most common of the three types and is caused by genetic changes in the NF1 gene located on chromosome 17 (17q11.2). This gene encodes a cytoplasmic protein known the neurofibromin, which functions as a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation.
Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. [5] NF1 is located on chromosome 17. [6] [7] [8] Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.
A neurofibroma is a benign nerve-sheath tumor in the peripheral nervous system.In 90% of cases, they are found as stand-alone tumors (solitary neurofibroma, solitary nerve sheath tumor [1] or sporadic neurofibroma [1]), while the remainder are found in persons with neurofibromatosis type I (NF1), an autosomal-dominant genetically inherited disease.
NF1 may refer to: Neurofibromatosis type I , a genetic disorder that can cause tumors (can be cancerous) and other health effects such as vision impairment, imbowed legs, and joint pain. Neurofibromin 1 , a protein associated with the disorder above.
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